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| Structural eye disease v0.76 | ABHD12 | Nicola Ragge reviewed gene: ABHD12: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract , 612674; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | ABHD12 | Ivone Leong reviewed gene: ABHD12: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 612674; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | ABHD12 |
Ivone Leong Source NHS GMS was added to ABHD12. Mode of inheritance for gene ABHD12 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 612674 for gene: ABHD12 |
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| Structural eye disease v0.2 | ABHD12 |
Ellen McDonagh gene: ABHD12 was added gene: ABHD12 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: ABHD12 was set to Phenotypes for gene: ABHD12 were set to Eye Disorders |
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